Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ai |
RCV002224272 | SCV002502420 | likely pathogenic | not provided | 2021-10-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002224272 | SCV003477092 | pathogenic | not provided | 2023-06-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PCDH15 protein in which other variant(s) (p.Gln1576*) have been determined to be pathogenic (PMID: 28281779). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1677530). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser1543*) in the PCDH15 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 413 amino acid(s) of the PCDH15 protein. |